Linked Data
ClinVar Variation Id:
330018
dbSNP Id:
rs139956424
ExAC:
19:54307292 G / T
gnomAD v2:
19-54307292-G-T
gnomAD v3:
19-53804038-G-T
gnomAD v4:
19-53804038-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.53804038G>T , CM000681.2:g.53804038G>T | GRCh38 |
| NC_000019.9:g.54307292G>T , CM000681.1:g.54307292G>T | GRCh37 |
| NC_000019.8:g.58999104G>T | NCBI36 |
| NG_008651.1:g.25357C>A | |
| NG_008651.2:g.25357C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000391773.7:c.2502C>A | ENSP00000375653.1:p.Asp834Glu | |
| ENST00000324134.11:c.2499C>A MANE Select | ENSP00000319377.6:p.Asp833Glu | |
| ENST00000391773.6:c.2502C>A | ENSP00000375653.1:p.Asp834Glu | |
| ENST00000324134.10:c.2499C>A | ENSP00000319377.6:p.Asp833Glu | |
| ENST00000345770.9:c.2502C>A | ENSP00000341428.5:p.Asp834Glu | |
| ENST00000391772.1:c.2502C>A | ENSP00000375652.1:p.Asp834Glu | |
| ENST00000391773.5:c.2502C>A | ENSP00000375653.1:p.Asp834Glu | |
| ENST00000391775.7:c.2499C>A | ENSP00000375655.3:p.Asp833Glu | |
| ENST00000492915.1:n.1657C>A | ||
| NM_001277126.1:c.2502C>A | NP_001264055.1:p.Asp834Glu | |
| NM_001277129.1:c.2499C>A | NP_001264058.1:p.Asp833Glu | |
| NM_144687.3:c.2499C>A | NP_653288.1:p.Asp833Glu | |
| XM_011527478.1:c.2334C>A | XP_011525780.1:p.Asp778Glu | |
| XM_011527479.1:c.2417+1242C>A | XP_011525781.1:n.2417+1242C>A | |
| XM_011527480.1:c.2502C>A | XP_011525782.1:p.Asp834Glu | |
| XM_011527481.1:c.2502C>A | XP_011525783.1:p.Asp834Glu | |
| XM_011527482.1:c.2502C>A | XP_011525784.1:p.Asp834Glu | |
| XM_011527483.1:c.2073-2641C>A | XP_011525785.1:n.2073-2641C>A | |
| XM_017027460.1:c.2502C>A | XP_016882949.1:p.Asp834Glu | |
| XM_017027461.1:c.2502C>A | XP_016882950.1:p.Asp834Glu | |
| XM_017027462.1:c.2328C>A | XP_016882951.1:p.Asp776Glu | |
| XM_017027463.1:c.2085C>A | XP_016882952.1:p.Asp695Glu | |
| XM_017027464.1:c.2085C>A | XP_016882953.1:p.Asp695Glu | |
| XM_017027465.1:c.2085C>A | XP_016882954.1:p.Asp695Glu | |
| XM_017027466.1:c.2085C>A | XP_016882955.1:p.Asp695Glu | |
| XM_017027467.1:c.2085C>A | XP_016882956.1:p.Asp695Glu | |
| NM_001277126.2:c.2502C>A | NP_001264055.1:p.Asp834Glu | |
| NM_144687.4:c.2499C>A MANE Select | NP_653288.1:p.Asp833Glu |